Gene/phenotype/disorder of interest
L1CAM, OMIM*308840
Abstract
L1 syndrome encompasses a phenotypic spectrum with brain anomalies, intellectual disability, and neurological symptoms typically affecting males with hemizygous loss-of-function L1CAM variants. Heterozygous females are usually not affected but may have a range of clinical manifestations. However, data on females with L1 syndrome remains limited. We aim to establish a cohort of healthy and affected females with a (likely) pathogenic L1CAM variant to better characterize the genetic and clinical spectrum. If you are interested in this project, we would greatly appreciate it if you could screen your databases for any female including affected individuals as well as healthy carrier mothers with a disease-causing L1CAM variant.
Coordinating clinicians
- Melissa Pauly; melissa.pauly@uk-erlangen.de
- Annika Willms; annika.willms@uk-erlangen.de
Institution
Universitätsklinikum Erlangen, Universität Erlangen-Nürnberg, Germany
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: Y but only if available for X inactivation testing
- Resampling of patients: N
- Linked to a translational/basic research project? N